More information on beta thalassaemia
Beta Thalassaemia is generally caused by point mutations or chromosome 11, following a recessive inheritance pattern (meaning that a mutation in each allele is needed to develop the disease). The symptoms of beta thalassaemia differ greatly from one patient to another, depending mostly on the severity of the mutation. Beta thalassaemia includes:
- Thalassaemia minor: this usually occurs in patients who are heterozygous for one beta thalassaemia mutation (beta thalassamia carriers or bête thalassaemia trait). Individuals will suffer from mild microcytic hypochromic anaemia, whih is usually asymptomatic and it is not expected to cause any health issue.
- Thalassaemia intermedia: Patients with symptoms that range from those observed in thalassaemia minor and those in thalassaemia major. Patient’s require frequent medical check ups and usually require sporadic blood transfusions.
- Thalassaemia major: also called Mediterranean anemia or Cooley anemia. It is caused by severe mutations in both alleles. No functional ß chains are produced, and thus no haemoglobin A can be assembled. This is he most severe form of ß-thalassemia: those with thalassaemia major need to have regular blood transfusions from infancy onwards in order to survive. Long term transfusions can lead to iron overload, so this patients also need iron chelating therapy.
Newborn Screening Results